A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis-Reference-Cited by-同舟云学术

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A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

Published:2016-12-28 Issue:12 Volume:11 Page:e0168484
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Fan Wufang,Wang Bei,He Shanshan,Zhang Tengfei,Yin Chenxing,Chen Yunping,Zheng Shuqi,Zhang Jixia,Li Lin

Funder

Hebei Province from Fund of the Hundred Talents Program

Shandong Province from Fund of Natural Research Joint Special

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference31 articles.

1. A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer Syndrome;E Battiloro;Hum Genet,1997

2. Swyer syndrome;TF King;CurrOpinEndocrinolDiabetes Obes,2014

3. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations;G Scherer;Cytogenet Cell Genet,1998

4. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif;AH Sinclair;Nature,1990

5. Male development of chromosomally female mice transgenic for Sry;P Koopman;Nature,1991

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY;CLIN PEDIATR ENDOCRI;2023

2. A case of 46,XY complete gonadal dysgenesis with a novel missense variant in <i>SRY</i>;Clinical Pediatric Endocrinology;2023

3. SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis;African Health Sciences;2021-09-27

4. Cellular fate of intersex differentiation;Cell Death & Disease;2021-04

5. Generation and mutational analysis of a transgenic mouse model of human SRY;2021-03-04

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